Canonical Allele Identifier: CA1008375835
Gene: ITLN1 HGNC NCBI

Linked Data

gnomAD v3: 1-160881763-C-T
gnomAD v4: 1-160881763-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160881763C>T , CM000663.2:g.160881763C>T GRCh38
NC_000001.10:g.160851553C>T , CM000663.1:g.160851553C>T GRCh37
NC_000001.9:g.159118177C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.405+194G>A MANE Select ENSP00000323587.3:n.405+194G>A
ENST00000326245.3:c.405+194G>A ENSP00000323587.3:n.405+194G>A
ENST00000464077.1:n.339+194G>A
NM_017625.2:c.405+194G>A NP_060095.2:n.405+194G>A
NM_017625.3:c.405+194G>A MANE Select NP_060095.2:n.405+194G>A
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